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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: None

      KindredID: 26

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (Hemangioblastoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseHPOFreeText: CNS hemangioblastoma, retinal angioma and renal cell carcinoma.

      CaseNotHPOs: HP:0001732 (Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692 (variants differ by one base pair; unclear which is accurate)

      SupplementalData: N/A

      Variant: p.D143Efs*13 (c.429_438del)

      LegacyVariant: c.642del10bp

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131814, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131814

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: D143Efs*13 (c.429_438del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 cDNAposition:429 ProteinPosition:143 AminoAcidChange:ASPtoGLU ClinVarID:N/A CAID:CA2573131814 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:D143Efs*13(c.429_438del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/